ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=)

gnomAD frequency: 0.02288  dbSNP: rs2227865
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147623 SCV000171836 benign not specified 2012-05-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000147623 SCV000195072 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000464944 SCV000562975 benign Early infantile epileptic encephalopathy with suppression bursts 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312610 SCV000846504 benign Inborn genetic diseases 2016-04-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV001808366 SCV002056660 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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